STON1-GTF2A1L (STON1-GTF2A1L readthrough)

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Gene miRNA Other IDs Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 286749
• Gene name: STON1-GTF2A1L readthrough
• Gene symbol: STON1-GTF2A1L
• Synonyms (NCBI Gene): ALF, GTF2A1L, GTF2A1LF, SALF
• Chromosome: 2
• Chromosome location: 2p16.3
• Summary: STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general tr

miRNA Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028961	hsa-miR-26b-5p	Microarray	19088304
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq
MIRT1554259	hsa-miR-4719	CLIP-seq
MIRT1554260	hsa-miR-513b	CLIP-seq

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Interactions View interactions

Pathways

Reactome Pathway

Cargo recognition for clathrin-mediated endocytosis

Clathrin-mediated endocytosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (9)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
FAMILIAL TESTOTOXICOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	33495597	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	21151128, 22885925	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE ATRIAL FIBRILLATION	—	GWAS catalog	30678657	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPOGONADISM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	24529757	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STON1-GTF2A1L-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (29)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	17135274		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28274107		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	25374392		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	25374392	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29194678		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30368998		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29685768		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	BEFREE	30368998		★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRAXE Syndrome	Fragile X syndrome	BEFREE	17135274		★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	28736976		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	30359967, 30368998		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	23770943, 25374392	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28259424		★☆☆☆☆ Found in Text Mining only
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty	Somatic Leydig Cell Adenoma With Male-Limited Precocious Puberty	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leydig cell agenesis	Leydig Cell Agenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	21143345, 29946176, 30359967		★☆☆☆☆ Found in Text Mining only
Luteinizing Hormone Resistance, Female	Luteinizing Hormone Resistance, Female	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28775256	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29777796		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	25374392		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	23770943	Stimulate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	23770943		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASDB_DG	21151128, 22885925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	21151128, 22885925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22547425, 39273163	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26305227	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary physiologic amenorrhea	Physiologic Amenorrhea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pseudohermaphroditism	Pseudohermaphroditism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

STON1 1 shared diseasePost-operative atrial fibrillation 2 shared pathwaysClathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis 2 shared evidence sourcesGWAS catalog (Amyotrophic lateral sclerosis), GWAS catalog (Post-operative atrial fibrillation) Related via 2 shared pathways including Clathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis — evidence mostly GWAS catalog. LHCGR 3 shared diseasesTestotoxicosis, Hypogonadism, Polycystic ovary syndrome 3 shared evidence sourcesDisgenet (Testotoxicosis), Disgenet (Hypogonadism), GWAS catalog (Polycystic ovary syndrome) Related via 3 shared diseases including Testotoxicosis, Hypogonadism — evidence mostly Disgenet. FCHO2 2 shared pathwaysClathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis Related via 2 shared pathways including Clathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis. SYT9 2 shared pathwaysClathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis Related via 2 shared pathways including Clathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis. AAK1 2 shared pathwaysClathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis Related via 2 shared pathways including Clathrin-mediated endocytosis, Cargo recognition for clathrin-mediated endocytosis.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
STON1	1	["Post-operative atrial fibrillation"]	2	["Clathrin-mediated endocytosis","Cargo recognition for clathrin-mediated endocytosis"]	2	["GWAS catalog (Amyotrophic lateral sclerosis)","GWAS catalog (Post-operative atrial fibrillation)"]
LHCGR	3	["Testotoxicosis","Hypogonadism","Polycystic ovary syndrome"]	0	[]	3	["Disgenet (Testotoxicosis)","Disgenet (Hypogonadism)","GWAS catalog (Polycystic ovary syndrome)"]
FCHO2	0	[]	2	["Clathrin-mediated endocytosis","Cargo recognition for clathrin-mediated endocytosis"]	0	[]
SYT9	0	[]	2	["Clathrin-mediated endocytosis","Cargo recognition for clathrin-mediated endocytosis"]	0	[]
AAK1	0	[]	2	["Clathrin-mediated endocytosis","Cargo recognition for clathrin-mediated endocytosis"]	0	[]

Diseases Linked via Similar Genes

Coronary artery disease Linked via 2 of 5 related genesFCHO2, AAK1 Periodontal disease Linked via 2 of 5 related genesFCHO2, AAK1 Periodontitis Linked via 2 of 5 related genesFCHO2, AAK1 46, xy disorder of sex development Linked via 1 of 5 related genesLHCGR Disorders of sex development Linked via 1 of 5 related genesLHCGR

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Coronary artery disease	2	["FCHO2","AAK1"]
Periodontal disease	2	["FCHO2","AAK1"]
Periodontitis	2	["FCHO2","AAK1"]
46, xy disorder of sex development	1	["LHCGR"]
Disorders of sex development	1	["LHCGR"]